Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024675.4

p.P529P

c.1587A>C

Surrounding Variants

1 paper

NM_024675.4

p.P529P

c.1587A>G

1 paper

NM_024675.4

p.L530F

c.1588C>T

1 paper

NM_024675.4

p.E528_P529del2

c.1582_1586del6

3 papers

NM_024675.4

p.L530P

c.1589T>C

1 paper

NM_024675.4

p.P529T

c.1585C>A

1 paper

NM_024675.4

p.E528D

c.1584A>T

1 paper

NM_024675.4

p.E528E

c.1584A>G

1 paper

NM_024675.4

p.E528D

c.1584A>C

1 paper

NM_024675.4

p.L531L

c.1591T>C

24 papers

NM_024675.4

p.L531fs

c.1591_1592fs

2 papers

NM_024675.4

p.L531*

c.1592T>A

1 paper

NM_024675.4

p.C527W

c.1581T>G